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ONT and PacBio data of 22q11 patient-parent duos/trios

ONT and PacBio FASTQ files generated for de novo assembly and resulting de novo assemblies

Type: Whole Genome Sequencing
Archiver: European Genome-phenome Archive (EGA)

1 Dataset 1 Publication

Click on a Dataset ID in the table below to learn more, and to find out who to contact about access to these data

Dataset ID	Description	Technology	Samples
EGAD50000002367	Long read data generated for de novo assembly (PacBio and ONT FASTQ files)	PromethION unspecified	9

Publications	Citations
Population differences of chromosome 22q11.2 duplication structure predispose differentially to microdeletion and inversion. Porubsky D, Yoo D, Koundinya N, Souche E, Dishuck PC, Dierckxsens N, Harvey WT, Munson KM, Hoekzema K, Chan DD, Leung TY, Santos MS, Meynants S, Swillen A, Breckpot J, Tsapalou V, Hasenfeld P, Korbel JO, Human Pangenome Reference Consortium, Lansdorp PM, Vermeesch JR, Eichler EE. Nat Commun 17: 2026 3701	0

Publications

Citations

Population differences of chromosome 22q11.2 duplication structure predispose differentially to microdeletion and inversion.
Porubsky D, Yoo D, Koundinya N, Souche E, Dishuck PC, Dierckxsens N, Harvey WT, Munson KM, Hoekzema K, Chan DD, Leung TY, Santos MS, Meynants S, Swillen A, Breckpot J, Tsapalou V, Hasenfeld P, Korbel JO, Human Pangenome Reference Consortium, Lansdorp PM, Vermeesch JR, Eichler EE. Nat Commun 17: 2026 3701